Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

作者: Stephen F Kingsmore , Carol J Saunders , None

DOI: 10.1126/SCITRANSLMED.3002695

关键词: Computational biologyDiseaseDNA sequencingBioinformaticsClinical diagnosisGenomeBiologyTranslational medicineDeep sequencingPersonal genomics

摘要: Next-generation sequencing technologies have greatly lowered the cost of whole-genome (WGS) and related approaches. Thus, comprehensive for diagnostic purposes may clear this financial hurdle in near future. The report by Bainbridge colleagues issue Science Translational Medicine illustrates power WGS. In Perspective, we discuss whether how genome might become routine clinical diagnosis.

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